Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who came to clinical attention due to infantile spasms...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Front Mol Biosci
Main Authors: Bie, Anne S., Fernandez-Guerra, Paula, Birkler, Rune I. D., Nisemblat, Shahar, Pelnena, Dita, Lu, Xinping, Deignan, Joshua L., Lee, Hane, Dorrani, Naghmeh, Corydon, Thomas J., Palmfeldt, Johan, Bivina, Liga, Azem, Abdussalam, Herman, Kristin, Bross, Peter
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2016
Teme:
Molecular Biosciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5053987/
https://ncbi.nlm.nih.gov/pubmed/27774450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmolb.2016.00065
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki